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68 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Hearing Impairment

  • Usher Syndrome Type 1H

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] OMIM : 58 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa[malacards.org] [from GeneReviews ] From OMIM Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech,[ncbi.nlm.nih.gov]

  • Congenital Deafness

    hearing loss ranges from mild to profound hearing loss.[wvdhhr.org] Three of 39 hearing impaired subjects were excluded; one due to insufficient information on the probable cause of the hearing impairment and the other two due to a non-genetic[nature.com] Newborns from across Victoria diagnosed with permanent hearing impairment in both ears of moderate or greater severity are being offered genomic sequencing in addition to[melbournegenomics.org.au]

  • Microtia

    […] canals, and bilateral profound sensorineural hearing loss (HL).[ncbi.nlm.nih.gov] Similar findings were obtained on a subset of 25 unilaterally hearing-impaired children who satisfied rather stringent criteria for age, hearing level, intelligence, length[doi.org] Microtia is often associated with impaired hearing and or total loss of hearing.[ncbi.nlm.nih.gov]

  • Usher Syndrome Type 1

    , profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function.[ltd.aruplab.com] Abstract Usher syndrome type I is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of[ncbi.nlm.nih.gov] Abstract Usher syndrome (USH) is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive visual loss attributable to retinitis pigmentosa[ncbi.nlm.nih.gov]

  • Usher Syndrome Type 1D

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Usher syndrome (USH) is a group of autosomal recessive sensory disorders characterized by progressive retinitis pigmentosa (RP) and sensorineural hearing impairment.[ncbi.nlm.nih.gov] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net]

  • Autosomal Recessive Deafness 24

    […] born with profound congenital deafness.[vdocuments.site] Affiliated tissues include brain, and related phenotype is profound sensorineural hearing impairment.[malacards.org] […] and deafness Bilateral sensorineural hearing impairment Severe sensorineural hearing impairment Bilateral conductive hearing impairment Hystrix-like ichthyosis with deafness[snpedia.com]

  • Autosomal Recessive Deafness 38

    […] born with profound congenital deafness.[vdocuments.site] In 50–60% of cases of congenital hearing impairment impaired hearing is hereditary (HIH) and in 40–50% of cases hearing loss is acquired.[eestiarst.ee] Keywords Hearing Loss Hearing Impairment Splice Site Mutation Compound Heterozygote GJB2 Gene Background The identification of genes causing non-syndromic hearing impairment[bmcearnosethroatdisord.biomedcentral.com]

  • Autosomal Recessive Deafness 22

    […] born with profound congenital deafness.[vdocuments.site] Willems CRC Press, ١٧‏/١٠‏/٢٠٠٣ - 406 من الصفحات Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment[books.google.com] […] and of mechanisms which lead to hearing impairment.[egms.de]

  • Autosomal Recessive Deafness 23

    […] born with profound congenital deafness.[vdocuments.site] […] and deafness Bilateral sensorineural hearing impairment Severe sensorineural hearing impairment Bilateral conductive hearing impairment Hystrix-like ichthyosis with deafness[snpedia.com] For syndromic hearing impairment, only a few of the most frequent monogenic forms are covered.[hereditaryhearingloss.org]

  • Autosomal Recessive Deafness 46

    […] born with profound congenital deafness.[vdocuments.site] Friedman, A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records, PLOS Genetics, 12, 10, (e1006371), (2016).[doi.org] ] A genotype-phenotype correlation for GJB2 (connexin 26) deafness. [ PMID 15967879 ] GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired[snpedia.com]

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